ClinVar for Gene (Select 1832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382799	NM_004415.4(DSP):c.2359del (p.Tyr787fs)	DSP (Y787fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely pathogenic
Select item 3382672	NM_004415.4(DSP):c.2241del (p.Phe747fs)	DSP (F747fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely pathogenic
Select item 3382407	NM_004415.4(DSP):c.5024_5027dup (p.Lys1676fs)	DSP (K1676fs)	Duplication (frameshift variant +1 more)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	GLikely pathogenic
Select item 3382021	NM_004415.4(DSP):c.4407_4423del (p.Asp1470fs)	DSP (D1470fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +4 more	GLikely pathogenic
Select item 3379635	NM_004415.4(DSP):c.8180T>C (p.Leu2727Pro)	DSP (L2128P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379634	NM_004415.4(DSP):c.7816A>C (p.Ser2606Arg)	DSP (S2007R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378181	NM_004415.4(DSP):c.4570A>G (p.Thr1524Ala)	DSP (T1524A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377488	NM_004415.4(DSP):c.7113_7119del (p.Ile2372fs)	DSP (I1773fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 3377471	NM_004415.4(DSP):c.6280A>G (p.Thr2094Ala)	DSP (T1495A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
Select item 3377395	NM_004415.4(DSP):c.1755dup (p.His586fs)	DSP (H586fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8	GPathogenic
Select item 3376837	NM_004415.4(DSP):c.4477G>T (p.Glu1493Ter)	DSP (E1493*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GPathogenic
Select item 3376735	NM_004415.4(DSP):c.6058G>A (p.Gly2020Arg)	DSP (G1421R +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3376734	NM_004415.4(DSP):c.3110T>A (p.Leu1037Ter)	DSP (L1037*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8	GPathogenic
Select item 3376666	NM_004415.4(DSP):c.3913del (p.Asp1305fs)	DSP (D1305fs)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3376640	NM_004415.4(DSP):c.5504A>C (p.Glu1835Ala)	DSP (E1236A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
Select item 3376617	NM_004415.4(DSP):c.4473_4495dup (p.Cys1499fs)	DSP (C1499fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3376585	NM_004415.4(DSP):c.3407del (p.Lys1136fs)	DSP (K1136fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8	GPathogenic
Select item 3376566	NM_004415.4(DSP):c.7394G>C (p.Arg2465Thr)	DSP (R1866T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
Select item 3375983	NM_004415.4(DSP):c.5233_5243delinsGACAGGGTTAACCCTAA (p.Lys1745_Thr1748delinsAspArgValAsnProAsn)	DSP	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3373307	NM_004415.4(DSP):c.5726T>G (p.Ile1909Ser)	DSP (I1310S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369179	NM_004415.4(DSP):c.4522C>T (p.Gln1508Ter)	DSP (Q1508*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3368709	NM_004415.4(DSP):c.3588A>C (p.Arg1196Ser)	DSP (R1196S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365861	NM_004415.4(DSP):c.3728C>G (p.Ser1243Ter)	DSP (S1243*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3365359	NM_004415.4(DSP):c.1738A>T (p.Ile580Leu)	DSP (I580L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363928	NM_004415.4(DSP):c.8183A>T (p.Glu2728Val)	DSP (E2129V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361448	NM_004415.4(DSP):c.4253A>T (p.Gln1418Leu)	DSP (Q1418L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359869	NM_004415.4(DSP):c.3300C>G (p.Cys1100Trp)	DSP (C1100W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348950	NM_004415.4(DSP):c.1337T>C (p.Val446Ala)	DSP (V446A)	Single nucleotide variant (missense variant)	DSP-related disorder	GUncertain significance
Select item 3347771	NM_004415.4(DSP):c.3552del (p.Lys1185fs)	DSP (K1185fs)	Deletion (frameshift variant)	DSP-related disorder	GLikely pathogenic
Select item 3347277	NM_004415.4(DSP):c.7577G>A (p.Ser2526Asn)	DSP (S1927N +2 more)	Single nucleotide variant (missense variant)	DSP-related disorder	GUncertain significance
Select item 3346715	NM_004415.4(DSP):c.5198A>C (p.Asp1733Ala)	DSP (D1733A)	Single nucleotide variant (missense variant +1 more)	DSP-related disorder	GUncertain significance
Select item 3346194	NM_004415.4(DSP):c.2588T>C (p.Leu863Pro)	DSP (L863P)	Single nucleotide variant (missense variant)	DSP-related disorder	GUncertain significance
Select item 3342835	NM_004415.4(DSP):c.1734G>C (p.Lys578Asn)	DSP (K578N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342781	NM_004415.4(DSP):c.6698_6708del (p.Val2233fs)	DSP (V1634fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3342693	NM_004415.3(DSP):c.-302C>G	DSP, DSP-AS1	Single nucleotide variant	not provided	GUncertain significance
Select item 3342550	NM_004415.4(DSP):c.2986-3_2995delinsT	DSP	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3342051	NM_004415.4(DSP):c.6264A>G (p.Ala2088=)	DSP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340824	NM_004415.4(DSP):c.3085-1G>A	DSP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3339438	NM_004415.4(DSP):c.870G>T (p.Glu290Asp)	DSP (E290D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338802	NM_004415.4(DSP):c.8269G>C (p.Asp2757His)	DSP (D2158H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338758	NM_004415.4(DSP):c.7388A>G (p.Lys2463Arg)	DSP (K1864R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337403	NM_004415.4(DSP):c.566_570del (p.Ser189fs)	DSP (S189fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337057	NM_004415.4(DSP):c.3915C>G (p.Asp1305Glu)	DSP (D1305E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3273908	NM_004415.4(DSP):c.5807A>G (p.Gln1936Arg)	DSP (Q1337R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273906	NM_004415.4(DSP):c.4184_4187del (p.Ile1395fs)	DSP (I1395fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3273905	NM_004415.4(DSP):c.1812C>G (p.Asp604Glu)	DSP (D604E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273903	NM_004415.4(DSP):c.373A>C (p.Ile125Leu)	DSP (I125L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273902	NM_004415.4(DSP):c.4647G>A (p.Arg1549=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3273901	NM_004415.4(DSP):c.518C>G (p.Thr173Ser)	DSP (T173S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273900	NM_004415.4(DSP):c.4376C>G (p.Thr1459Arg)	DSP (T1459R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3273899	NM_004415.4(DSP):c.1113T>C (p.His371=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3273897	NM_004415.4(DSP):c.6496C>G (p.Arg2166Gly)	DSP (R1567G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273896	NM_004415.4(DSP):c.8334A>G (p.Lys2778=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3273894	NM_004415.4(DSP):c.340del (p.Ala114fs)	DSP (A114fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3273893	NM_004415.4(DSP):c.1241T>C (p.Leu414Pro)	DSP (L414P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273892	NM_004415.4(DSP):c.1988A>G (p.Lys663Arg)	DSP (K663R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273891	NM_004415.4(DSP):c.5011G>A (p.Glu1671Lys)	DSP (E1671K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3273890	NM_004415.4(DSP):c.6403G>C (p.Val2135Leu)	DSP (V2135L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273888	NM_004415.4(DSP):c.4064A>G (p.Tyr1355Cys)	DSP (Y1355C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3273887	NM_004415.4(DSP):c.6151G>T (p.Ala2051Ser)	DSP (A2051S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273886	NM_004415.4(DSP):c.4318G>A (p.Val1440Met)	DSP (V1440M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3273884	NM_004415.4(DSP):c.1629del (p.Asn543fs)	DSP (N543fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3273883	NM_004415.4(DSP):c.2765C>G (p.Thr922Arg)	DSP (T922R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273881	NM_004415.4(DSP):c.7617T>G (p.Val2539=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3273880	NM_004415.4(DSP):c.3495G>A (p.Lys1165=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3258075	NM_004415.4(DSP):c.4476del (p.Glu1493fs)	DSP (E1493fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
Select item 3253323	NM_004415.4(DSP):c.291T>G (p.Asp97Glu)	DSP (D97E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253308	NM_004415.4(DSP):c.7048_7049del (p.Leu2350fs)	DSP (L1751fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3252763	NM_004415.4(DSP):c.2211A>C (p.Glu737Asp)	DSP (E737D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251115	NM_004415.4(DSP):c.274-6T>C	DSP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3246003	NC_000006.11:g.(?_7583166)_(7587903_?)del	DSP	Deletion	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 3246002	NC_000006.11:g.(?_7532151)_(7559633_?)del	DSP	Deletion	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 3224261	NM_004415.4(DSP):c.950G>A (p.Ser317Asn)	DSP (S317N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224260	NM_004415.4(DSP):c.8568T>C (p.Ser2856=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224259	NM_004415.4(DSP):c.84C>T (p.Tyr28=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224258	NM_004415.4(DSP):c.8464G>A (p.Ala2822Thr)	DSP (A2223T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224257	NM_004415.4(DSP):c.8444G>T (p.Ser2815Ile)	DSP (S2216I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224255	NM_004415.4(DSP):c.8421C>T (p.Ser2807=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224254	NM_004415.4(DSP):c.8352C>G (p.Ser2784=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224253	NM_004415.4(DSP):c.8134G>A (p.Ala2712Thr)	DSP (A2113T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224252	NM_004415.4(DSP):c.80G>A (p.Arg27His)	DSP, DSP-AS1 (R27H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224251	NM_004415.4(DSP):c.79C>G (p.Arg27Gly)	DSP, DSP-AS1 (R27G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224250	NM_004415.4(DSP):c.7776G>C (p.Lys2592Asn)	DSP (K1993N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224249	NM_004415.4(DSP):c.765T>C (p.Tyr255=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224248	NM_004415.4(DSP):c.7633G>A (p.Asp2545Asn)	DSP (D1946N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224247	NM_004415.4(DSP):c.7427A>G (p.Glu2476Gly)	DSP (E1877G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224246	NM_004415.4(DSP):c.701A>G (p.Gln234Arg)	DSP (Q234R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224245	NM_004415.4(DSP):c.6960G>A (p.Leu2320=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224244	NM_004415.4(DSP):c.671T>C (p.Ile224Thr)	DSP (I224T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224243	NM_004415.4(DSP):c.6676G>A (p.Gly2226Ser)	DSP (G1627S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224242	NM_004415.4(DSP):c.6469G>A (p.Asp2157Asn)	DSP (D1558N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3224241	NM_004415.4(DSP):c.5717T>G (p.Ile1906Ser)	DSP (I1307S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224240	NM_004415.4(DSP):c.5701A>G (p.Arg1901Gly)	DSP (R1302G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224239	NM_004415.4(DSP):c.5430G>A (p.Gln1810=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224238	NM_004415.4(DSP):c.4810T>A (p.Ser1604Thr)	DSP (S1604T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224237	NM_004415.4(DSP):c.4770G>A (p.Lys1590=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3224236	NM_004415.4(DSP):c.4745G>T (p.Arg1582Met)	DSP (R1582M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224235	NM_004415.4(DSP):c.4529T>G (p.Val1510Gly)	DSP (V1510G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224234	NM_004415.4(DSP):c.4494A>G (p.Lys1498=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3224233	NM_004415.4(DSP):c.4491G>C (p.Arg1497=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign

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